FB2026_02 , released June 18, 2026
Human Disease Model Report: Leber hereditary optic neuropathy, MT-ND2-related
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General Information
Name
Leber hereditary optic neuropathy, MT-ND2-related
FlyBase ID
FBhh0000384
Disease Ontology Term
Parent Disease
OMIM
Overview

An inherited form of vision loss, Leber hereditary optic neuropathy is caused by missense mutation in one of several of the mitochondrially encoded subunits of complex I. The most commonly observed variants are in MT-ND1, MT-ND4, MT-ND4L, or MT-ND6; variants in MT-ND2 and MT-ND5 have also been described. See MIM:516001 for variants of MT-ND2 associated with Leber hereditary optic neuropathy. See also the human disease model report for mitochondrial complex I deficiency, MT-ND2-related (FBhh0000382) for information on experimental results using Drosophila models related to MT-ND2.

[updated Aug. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: Leber hereditary optic neuropathy
Symptoms and phenotype

LHON presents in midlife as acute or subacute central vision loss leading to central scotoma (blind spot) and blindness. [from MIM:535000; 2016.08.27]

(OMIM, 2013-)

LHON is characterized by bilateral, painless, subacute visual failure that develops during young adult life. Most patients eventually become legally blind. [from Gene Reviews, Leber Hereditary Optic Neuropathy; 2016.08.27]

(FlyBase Curators, 2013-)
Specific Disease Summary: Leber hereditary optic neuropathy, MT-ND2-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    MT-ND2; mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2
    D. melanogaster ortholog (based on DIOPT)
    Dmel\mt:ND2
    (DIOPT, 2013-)
    Comments on ortholog(s)

    One to one: 1 human to 1 Drosophila.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        References (3)